Ayat Lashen, Abdulbaqi Al-Kawaz, Jennie N Jeyapalan, Shatha Alqahtani, Ahmed Shoqafi, Mashael Algethami, Michael Toss, Andrew R Green, Nigel P Mongan, Sudha Sharma, Mohammad R Akbari, Emad A Rakha, Srinivasan Madhusudan
Neoplasia (New York, N.Y.) 2024 JanRECQL is essential for genomic stability. Here, we evaluated RECQL in 449 pure ductal carcinomas in situ (DCIS), 152 DCIS components of mixed DCIS/invasive breast cancer (IBC) tumors, 157 IBC components of mixed DCIS/IBC and 50 normal epithelial terminal ductal lobular units (TDLUs). In 726 IBCs, CD8+, FOXP3+, IL17+, PDL1+, PD1+ T-cell infiltration (TILs) were investigated in RECQL deficient and proficient cancers. Tumor mutation burden (TMB) was evaluated in five RECQL germ-line mutation carriers with IBC by genome sequencing. Compared with normal epithelial cells, a striking reduction in nuclear RECQL in DCIS was evident with aggressive pathology and poor survival. In RECQL deficient IBCs, CD8+, FOXP3+, IL17+ or PDL1+ TILs were linked with aggressive pathology and shorter survival. In germline RECQL mutation carriers, increased TMB was observed in 4/5 tumors. We conclude that RECQL loss is an early event in breast cancer and promote immune cell infiltration. Copyright © 2023. Published by Elsevier Inc.
Ayat Lashen, Abdulbaqi Al-Kawaz, Jennie N Jeyapalan, Shatha Alqahtani, Ahmed Shoqafi, Mashael Algethami, Michael Toss, Andrew R Green, Nigel P Mongan, Sudha Sharma, Mohammad R Akbari, Emad A Rakha, Srinivasan Madhusudan. Immune infiltration, aggressive pathology, and poor survival outcomes in RECQL helicase deficient breast cancers. Neoplasia (New York, N.Y.). 2024 Jan;47:100957
PMID: 38134458
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